Varaico: Literature-Extracted Genetic Variants

Gene:MAPKAPK3
Variant:p.L173P
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MAPKAPK3

NM_001243925.2:p.L173P

Associated Papers

Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights.

Jean-Charles A et al.

Ophthalmology, 2016

A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.

Meunier I et al.

Human Molecular Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."